Open Access

Do Gene Polymorphisms Play a Role in Newborn Hyperbilirubinemia?

N Hakan
N Hakan
, 
M Aydin
M Aydin
, 
S Ceylaner
S Ceylaner
, 
D Dilli
D Dilli
, 
A Zenciroğlu
A Zenciroğlu
 and 
N Okumuş
N Okumuş
   | Mar 12, 2024
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Article Category: Original Article
Published Online: Mar 12, 2024
Page range: 51 - 58
DOI: https://doi.org/10.2478/bjmg-2023-0021
Keywords
© 2023 N Hakan et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Frequency of allelic and genotypic polymorphisms in UGT1A1, SLCO1B1, SLCO1B3 and GSTP1 genes in case and control groups

Genotype frequency n (%) Allele frequency n (%)

UGT1A1

rs4148323 G71R

c.211A>G

 A/A A/G G/G Total A G Total
IH 49 (92.4) 2(3.8) 2(3.8) 53 (100) 100 (94) 6(6) 106(100)
Prolonged jaundice 21 (77.8) 6 (22.2) 0 27(100) 48 (89) 6(11) 54(100)
Control 35 (92.1) 3 (7.9) 0 38(100) 73 (96) 3(4) 76(100)
P 0.14 0.26

SLCOIBI

rs2306283

c.388A>G

 A/A A/G G/G Total A G Total
IH 17(27.8) 35 (57.3) 9(14.9) 61(100) 69(57) 53 (43) 122(100)
Prolonged jaundice 7(25) 13 (46.4) 8 (28.6) 28(100) 27(48) 29 (52) 56(100)
Control 19 (46.3) 16 (39) 6(14.7) 41(100) 54(66) 28 (34) 82(100)
P 0.09 0.11

rsl1045819

c.463C>A

 C/C C/A A/A Total C A Total
IH 47 (77) 13 (21.3) 1 (1.7) 61(100) 107 (88) 15 (12) 122(100)
Prolonged jaundice 20 (71.4) 7(25) 1 (3.6) 28(100) 47 (84) 9(16) 56(100)
Control 32 (82) 7(18) 0 39(100) 71(91) 7(9) 78 (100)
P 0.59 0.46

rsl1045819

c.521T>C

 t n T/C C/C Total T C Total
IH 38 (62.3) 21 (34.4) 2 (3.3) 61(100) 97(80) 25 (20) 122(100)
Prolonged jaundice 21 (75) 6(21.4) 1 (3.6) 28(100) 48 (86) 8 (14) 56(100)
Control 31(75.6) 9(21.9) 1 (2.5) 41(100) 71(87) 11(13) 82(100)
P 0.27 0.35

rs59502379 c.

1463G>C

 G/G G/C C/C Total G C Total
IH 61 (100) 0 0 61(100) 122(100) 0 122(100)
Prolonged jaundice 28(100) 0 0 28(100) 56(100) 0 56(100)
Control P 40 (100) 0 0 40 (100) 80 (100) 0 80(100)

SLC01B3

rs4149117

c.334T>G

 T/T T/G G/G Total T G Total
IH 2(3.4) 13 (22.4) 43 (74.2) 58(100) 17(15) 99 (85) 116(100)
Prolonged jaundice 0 6(21.4) 22 (78.6) 28(100) 6(11) 50 (89) 56(100)
Control 0 3 (7.5) 37(92.5) 40(100) 3(4) 77 (96) 80(100)
P 0.20 0.03

rsl7680137

c.727+118C>G

 c/c C/G G/G Total C G Total
IH 46 (75.4) 11(18) 4 (6.6) 61(100) 103 (94) 19(16) 122(100)
Prolonged jaundice 19(67.8) 7(25) 2 (7.2) 28 (100) 45(80) 11(20) 56(100)
Control 33 (80.5) 7(17) 1 (2.5) 41 (100) 73 (89) 9(11) 82(100)
P 0.49 0.36

rs2117032

c. 1865+19721C>T

 C/C C/T T/T Total C T Total
IH 17 (27.8) 29 (47.5) 15 (24.7) 61(100) 63 (52) 59 (48) 122(100)
Prolonged jaundice 6 (21.4) 13 (46.4) 9 (32.2) 28 (100) 25 (45) 31(55) 56(100)
Control 4 (9.7) 21(51.2) 16(39.1) 41 (100) 29 (35) 53 (65) 82(100)
P 0.07 0.07
GSTP1

rsl695

c.313A>G

 A/A A/G G/G Total A G Total
IH 28 (50.9) 18 (32.7) 9(16.4) 55 (100) 74(67) 36 (33) 110(100)
Prolonged jaundice 12(42.8) 13 (46.4) 3 (10.8) 28(100) 37(66) 19 (34) 56(100)
Control 18(45) 19(47.5) 3 (7.5) 40 (100) 55(69) 25 (31) 80 (100)
c 0.74 0.94

rsl138272

c.341C>T

 C/C C/T T/T Total C T Total
IH 48 (87.3) 7(12.7) 0 55 (100) 103 (94) 7(6) 110(100)
Prolonged jaundice 21 (75) 7(25) 0 28(100) 49(88) 7(12) 56(100)
Control 29 (72.5) 11(27.5) 0 40 (100) 69(86) 11(14) 80(100)
P 0.15 0.19

Demographic characteristics of the study population

Idiopathic Hyperbilirubinemia (n:61) Prolonged jaundice (n:28) Control (n:41) P
Gestational age (weeks, mean± SD) 38.1 ± 1.0 38.5 ± 1.0 38.8 ±1.0 >0.05
Birth weight (g, mean ± SD) 3145 ±397 3154 ±390 3322 ±416 >0.05
Gender (Male/Female) 30/31 13/15 20/21 >0.05
Peak STB* level (mg/dl) 19.3 ± 1.9 - 7.1 ±2.4 0.0001
Peak time of STB (days) 5.2 ±1.9 - 5.1 ± 1.5 >0.05
Feeding pattern (breast milk/breast milk+formula) 56/5 26/2 37/4 >0.05

Peak bilirubin levels and peak time of hyperbilirubinemia in the idiopathic hyperbilirubinemia group according to genotypic distributions

Genotype distribution P

UGT1A1

rs4148323 G71R c.211A>G

 G/G AJG G/G
Mean peak bilirubin levels (mg/dL) 19.4 ±2.1 20 ±2.8 19.7 ±1.3 0.87
Peak time of hyperbilirubinemia (day) 5.1 ± 1.9 6 ± 1.4 8.5 ±3.5 0.06

SLCOIBI

rs2306283 c.388A>G

 A/A AJG G/G
Mean peak bilirubin levels (mg/dL) 18.8 ± 1.2 19.5 ±2.3 19.2 ±1.5 0.42
Peak time of hyperbilirubinemia (day) 5.0 ±2.0 5.2 ±2.2 5.4 ± 1.1 0.89

rsl 1045819

c.463C>A

 C/C C/A A/A
Mean peak bilirubin levels (mg/dL) 19.2 ± 1.6 19.9 ± 2.9 17 ±0 0.28
Peak time of hyperbilirubinemia (day) 5.1 ± 1.9 5.6 ± 2.4 5.0 ±0.0 0.74

rsl 1045819

c.521T>C

 T/T T/C C/C
Mean peak bilirubin levels (mg/dL) 19.3 ± 2.2 19.3 ± 1.5 18.1 ±0.9 0.67
Peak time of hyperbilirubinemia (day) 5.5 ±2.1 4.7 ± 1.8 4.5 ±2.1 0.27

rs59502379

c.l463G>C

 G/G G/C C/C
Mean peak bilirubin levels (mg/dL) 19.4 ± 1.5 - - -
Peak time of hyperbilirubinemia (day) 5.2 ± 1.8 - - -

SLC01B3

rs4149117 c.334T>G

 T/T G/T G/G
Mean peak bilirubin levels (mg/dL) 20.3 ±2.1 18.8 ± 1.1 19.4 ±2.2 0.49
Peak time of hyperbilirubinemia (day) 6.0 ± 1.4 4.8 ±2.1 5.2 ±2.0 0.69

rsl7680137

e.727+118C>G

 C/C C/G G/G
Mean peak bilirubin levels (mg/dL) 19.3 ± 2.0 18.9 ± 1.4 19 ±2.4 0.77
Peak time of hyperbilirubinemia (day) 5.3 ± 2.2 4.9 ± 0.9 5.2 ±2.6 0.84

rs2117032

c.l865f 19721C>T

 C/C C/T T/T
Mean peak bilirubin levels (mg/dL) 19.4 ± 2.3 19.8 ± 2.0 18.7 ± 1.1 0.19
Peak time of hyperbilirubinemia (day) 5.0 ± 1.8 5.5 ± 2.3 4.8 ± 1.5 0.47

GSTP1

rsl695 c.313A>G

 A/A AJG G/G
Mean peak bilirubin levels (mg/dL) 19.8 ±2.1 19.2 ± 1.8 18.5 ± 1.6 0.25
Peak time of hyperbilirubinemia (day) 5.5 ± 1.9 5.3 ± 2.4 4.4 ± 1.3 0.40

rsl 138272

c.341C>T

 C/C C/T T/T
Mean peak bilirubin levels (mg/dL) 19.4 ± 2.0 18.9 ± 1.4 - 0.50
Peak time of hyperbilirubinemia (day) 5.2 ± 1.9 5.2 ± 2.6 - 0.98
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